Publications

The ARUP Institute for Clinical and Experimental Pathology^® is focused on the development of new diagnostic assays in a wide range of disciplines. Researchers at the institute regularly publish in respected, peer-reviewed journals, give presentations at national and international organizations, author books and book chapters, and develop new tests.

Publications by Year

Recent Publications

Dickson A, Cone KR, Fortini BK, Goldstein J, Thompson ML, Wilke MVMB, Hurst ACE, Schroeder MC, Polonis K, Bowling KM. Survey of demographics, training, duties, and professional development for variant scientists in genomic medicine. J Mol Diagn. 2025;27(10):936-944.

Metcalf RA, Dhiman P, Stanworth SJ. Personalized platelet transfusion predictions for neonates. JAMA. 2025;334(14):1240-1242.

Selkin TR, Manucha V, Xu J, Palsgrove D, Bridge JA, Bishop JA. Novel BMPR1B::AFF2 in a sinonasal region non-keratinizing squamous cell carcinoma. Head Neck Pathol. 2025;19(1):111.

Kaysen SA, Luo MX, Shean RC, Hanson KE, Bradley BT, Hale GL. Challenges and predictive value of morphologic features in panfungal sequencing of formalin-fixed, paraffin-embedded tissues: a 5-year retrospective study. Am J Clin Pathol. 2025;164(3):464-473.

Madigan LM, Boggs NA, Rets AV, Gru AA, Tashi T, Wada DA, Florell SR, Carter MC. Correction to: mastocytosis in the skin: approach to diagnosis, evaluation, and management in adult and pediatric patients. Am J Clin Dermatol. 2025;26(5):851.

Spies NC. From laptop to laboratory: development and implementation of a machine learning model for detecting iron-deficiency anemia. Clin Chem. 2025;71(9):923-924.

Wilcock DM, Zhao J, Gulbahce HE. Resolving HER2 status in breast carcinoma patients with complete deletion of CEP17 in fluorescence in-situ hybridization assays. Cancer Genet. 2025;296-297:196-199.

Wilcock DM, Zhao J, Gulbahce HE. Corrigendum to "Resolving HER2 status in breast carcinoma patients with complete deletion of CEP17 in fluorescence in-situ hybridization assays" [published correction appears in Cancer Genetics. 2025;296-297:196-199]. Cancer Genet. 2025;296-297:217.

Newstead S, Montelongo D, Shakir S, Swaminathan N. Disseminated Mycobacterium kansasii and Mycobacterium avium complex co-infection in GATA2 mutated myelodysplastic syndrome: a case report. Ther Adv Infect Dis. 2025 Sep;12:20499361251359825.

Kushnir MM,  Sinden L,  Frank EL. Development and validation of an LC-MS/MS method for measurement of porphobilinogen in urine. Clin Chim Acta. 2025;579:120579. 

Verstovsek S, Kiladjian JJ, Vannucchi AM, Patel JL, Rambaldi A, Shomali WE, Oh ST, Usuki K, Harrison CN, Ritchie EK, Akard LP, Hernández-Boluda JC, Huguet F, Colucci P, Zhen H, Oliveira N, Gilmartin A, Langford C, George TI, Reiter A, Gotlib J. Pemigatinib for myeloid/lymphoid neoplasms with FGFR1 rearrangement. NEJM Evid. 2025;4(9):EVIDoa2500017.

Alnoor F, Spies NC, Kumar J, Samghabadi P, Silva O, Luo MX, Chisholm KM, Zhang J, Rangel A, Ng D, Li P, Ohgami RS. The evolution and recent advances in diagnostic criteria for idiopathic multicentric Castleman disease. Am J Hematol. 2025;100(11):2064-2073.

Allison TR, La'ulu SL, Doyle K, Nelson HA. Evaluation of preanalytical factors on quantification of amyloid-β (1-42), phosphorylated tau 181, and total tau in cerebrospinal fluid. Lab Med. 2025:lmaf044.

Roy S, Tremblay MW, Lockhart E, Aradhya S, Bayrak-Toydemir P, Bowser M, DaRe J, Gibson K, Kennemer M, Krueger C, Lebo M, Mao R, Nussbaum R, O'Fallon B, Rosato A, Kalman LV, Funke B. From expert knowledge to validation resources: a case for using in silico approaches to close the gap in available reference materials for common germline genetic tests. J Mol Diagn. 2025:S1525-1578(25)00195-3.

Marchetti M, Fonseca EM, Hanson KE, Barker B, Walter KS. The impact of bioinformatic choices on Coccidioides variant identification accuracy. Microbiol Spectr. 2025;13(10):e0123225.

Fabre V, Hsu Y-J, Carroll KC, Milstone AM, Salinas AB, Abbo LM, Bower C, Berry J, Boyd S, Degnan KO, Dhaubhadel P, Diekema DJ, Dress M, Feeser B, Fisher M, Flynn C, Ford BA, Gettler EB, Glasser LJ, Howard-Anderson J, Johnson JK, Karaba SM, Kim JJ, Kubischta A, Landrum BM, Martinez M, Mathers AJ, Mermel L, Moehring RW, O'Horo JC, Pepe DE, Qasba SS, Rittmann B, Robinson ED, Rodríguez-Nava G, Rosa R, Ryder JH, Salinas JL, Shah A, Schrank GM, Shelly M, Spivak ES, Stewart KO, Talbot TR, Van Schooneveld TC, Wasylyshyn A, Gadala A, Virk Z, Cosgrove SE. Multicenter evaluation of blood culture contamination and blood cultures practices in US acute care hospitals: time for standardization. J Clin Microbiol. 2025;63(8):e0053025. 

Wilke MVMB, Panwar D, Verheijen JM, Umeshita S, Thurman SA, Nickels K, Darr K, Murakami Y, Klee E, Schimmenti LA, Pinto E Vairo F. Functional characterization of two novel biallelic PIGV variants in a patient with myoclonic seizures and elevated alkaline phosphatase: a case report. Am J Med Genet A. 2025:e64220.

Hanson KE, Tsalik EL. Host immune response profiling for the diagnosis of infectious diseases. J Infect Dis. 2025:jiaf428.

Schornack BJ, McMurray JC, Leondaridis M, Sun X, Stinson JR, James A, Brunader JA, Hartman KR, Villar J, Dalgard CL, Hellwig LD, Montebello AN, Engin Zerk P, Guarnieri AL, Zhou Y, Jalluri RK, Pryor EM, Snow AL, George TI, Carter MC, Maric I, Boggs NA. Well-differentiated systemic mastocytosis: genetics, mast cell immunophenotypes, and KIT autophosphorylation. J Allergy Clin Immunol. 2025:S0091-6749(25)00847-4.

Wen T, Akay G, Palumbos J, Ostrander B, Quigley DI, Lamb AN, Andersen EF, Hong B, Viskochil D. Vertical inheritance and unique differential phenotypes of reciprocal recombinant chromosome 18 within a multi-generation family. Eur J Hum Genet. Published online Jul 2025.

Smock KJ, Moffat KA. Laboratory diagnostics for thrombosis and hemostasis testing-part IV. Semin Thromb Hemost. 2025;51(6):627-628.

Kang BE, Zhang S, Lesmana H, Dungan J, Reynolds K, Guha S, Best H; ACMG Laboratory Quality Assurance Committee. Venous thromboembolism laboratory testing (factor V Leiden and factor II c.∗97G>A), 2025 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2025;27(8):101466.

Maucione C, McLamb N, Zaydman MA, Pearson LN, Metcalf RA, Spies NC. Intravenous fluid contamination in complete blood counts may lead to unnecessary red blood cell transfusions. Transfusion. 2025;65(10):1996-1998.

Dodson MW, Allen-Brady K, Stevens J, Cirulis MM, Alotaibi M, Fernandes TM, Kim NH, Kerr KM, Papamatheakis DG, Poch DS, Desmarais J, Best DH, Hatton ND, Ryan JJ, Elliott CG, Cannon-Albright LA. Rare variants in STAB2 in patients with chronic thromboembolic pulmonary hypertension. ERJ Open Res. 2025;11(4):01322-2024.

Shean RC, Rets AV. Digital pathology in hematopathology: from vision to deployment. Int J Lab Hematol. Published online Jul 2025.

Dien Bard J, Sullivan KV, Zhang SX, Anelo OM, Bradley BT, Couturier MR, McCarter YS, Moore NM, Pyden AD, Rhoads DD, Rowlinson MC, Wojewoda CM, Martin IW. Navigating nomenclature in patient care: taxonomy considerations from the College of American Pathologists' Microbiology Committee. Clin Infect Dis. 2025:ciaf474.

Shestakova G, Edgar NU, Rets AV. Common hematologic emergencies-acute promyelocytic leukemia and microangiopathic hemolytic anemias-a pivotal role of clinical laboratory. Int J Lab Hematol. Published online Jul 2025.

Saadalla A, Doyle K, Moser K, Smock K. Determination of fibrinogen ratio cutoff limits using indirect reference interval methodology. Int J Lab Hematol. Published online Jul 2025.

Stark DL, Falekun S, Jorgensen S, Slev P. Prevalence of hepatitis D in the United States. J Appl Lab Med. 2025;10(5):1133-1139.

Bachert SE, Onken AM, Cleary AS, Nakhlis F, Bellon JR, Overmoyer BA, Lynce F, Harrison BT. The clinicopathologic features of inflammatory breast carcinoma (IBC) with lobular features. Am J Surg Pathol. 2025;49(9):882-889.

Profaizer T, Saadalla A, Nandakumar V. Validation for soluble C5b-9 detection and comparative analysis of three quantification methods. J Immunol Methods. 2025;541:113882.

Profaizer T, Elgort MG, Delgado JC. Development and laboratory validation of an electrochemiluminescence ELISA technique for measuring infliximab concentrations and anti-drug antibodies. J Immunol Methods. 2025;540:113865.

Hoshina Y, Smith TL, Mstat AD, Wong KH, Peterson LK, Zekeridou A, Aboseif A, Coffey C, Wright MA, Banwell B, Dialino-Felix A, Flavin S, Dill L, Titulaer MJ, Day GS, Clardy SL. An updated, comprehensive meta-analysis of the treatment of anti-NMDAR encephalitis: analysis, equipoise, and the urgent need for evidence over anecdote. J Neuroimmunol. 2025;405:578651.

Jain D, Pavlov IY, Čučnik S, Delgado JC, Lázár-Molnár E. Expanding the clinical utility of reporter gene assay to infliximab biosimilars. Clin Chim Acta. 2025;575:120337.

Shestakova A, Rets AV, Menon M. Autoimmune hepatobiliary disease and cryoglobulins in peripheral blood. Am J Hematol. Published online Jul 2025.

Shean RC, Genzen JR, Spies NC. Large language models lack sufficient performance to provide definitive regulatory guidance. J Appl Lab Med. 2025;10(4):1069-1071.

Leon A, Castro-Echeverry E, Fussell AM, Jordan D, Kip NS, Roy A, Suarez CJ, Temple-Smolkin RL, Coleman J. Clinical bioinformatician body of knowledge-molecular diagnostics core: a report of the Association for Molecular Pathology. J Mol Diagn. 2025;27(7):546-565.

Tarrell A, Weber J, Shawar R, Brunelli L, Morelli S, Bayrak-Toydemir P, Doughty E, Akay G, Botto LD, Flemming E, Reading NS, Jaramillo C. A rare case of neonatal cholestasis linked to FOCAD gene variants: exploring the variable phenotypic presentation and its implications. Case Rep Genet. 2025;2025:9569160.

Adegoke AO, Jackson AN, La'ulu SL, Anderson C, Rudolf JW, Boyd JM, Johnson-Davis KL. Immunalysis tapentadol assay reformulation resolves tramadol interference. J Anal Toxicol. 2025:bkaf060.

Simner PJ, Harris H, Jacobs E, Stambaugh H, Bhalodi A, Fisher M, Tekle T, Lu J, Humphries R. Establishing Clinical and Laboratory Standards Institute M45 antimicrobial susceptibility testing methods and breakpoints for Pseudomonas other than Pseudomonas aeruginosa. J Clin Microbiol. 2025;63(8):e0036825.

Gisriel SD, Yuan J, Tang H, Xu J, Fang H, Li S, McCracken J, Li P, Braunberger RC, Xu-Monette ZY, Wu X, Wang E, Zhang QY, Soma LA, Katz SG, Zhang JJ, Matsumoto NP, Young KH, Xu ML, Pan Z. Concurrent or subsequent lymphomatous effusion in large B-cell lymphoma portends a dismal prognosis: a multi-institutional study. Am J Clin Pathol. 2025;164(3):390-401.

English P, Morrison MJ, Mathison B, Enrico E, Shean R, O'Fallon B, Rupp D, Knight K, Rangel A, Gilivary J, Vance A, Hatch H, Lin L, Ng DP, Shakir SM. Use of a convolutional neural network for direct detection of acid-fast bacilli from clinical specimens. Microbiol Spectr. 2025;13(8):e0060225.

Lu X, Andersen EF, Banerjee R, Eno CC, Gonzales PR, Kumar S, Lager AM, Miron PM, Pugh T, Quintero-Rivera F, Thurston VC, Wolff DJ, Zhao J, Fonseca R, Baughn LB. Guidelines for the testing and reporting of cytogenetic results for risk stratification of multiple myeloma: a report of the Cancer Genomics Consortium Plasma Cell Neoplasm Working Group. Blood Cancer J. 2025;15(1):86.

Spies NC, Ng DP. Performance metrics for machine learning solutions in laboratory medicine. Lab Med. 2025:lmaf013.

Maynard R, Manuel C, Simpkins S, Haro M, Ledeboer N, Simner PJ, Fisher M, Humphries R. Development of disk diffusion susceptibility test methods for Aerococcus spp. and updates to Clinical and Laboratory Standards Institute MIC breakpoints. J Clin Microbiol. 2025;63(6):e0011525.

Lin Y, K Mensah I, Doering M, C Shean R, Spies NC. Machine learning-based error detection in the clinical laboratory: a critical review. Crit Rev Clin Lab Sci. 2025:1-13.

Luo W, Hu S, Riahi IR, Wang HL, Shaker N, Abukhiran I, Wang T, Polydorides AD, Akinsanya A, González IA, Hagen C, Graham RP, Lisovsky M, Longacre TA, Challa B, Chen W, Harter D, Beech C, Najibi M, Cao W, Lee M, Lagana SM, Liao X, Setia N, Westbrook LM, Chandan VS, Choi WT, Ding X, Gonzalez RS, Gopal P, Lee H, Navale P, Liu X, Panarelli NC, Yang Z, Drage MG, Song Z, Li F, Nagtegaal ID, Zhang X. Clinicopathologic features of untreated colorectal cancer with acellular mucin-only lymph nodes. Mod Pathol. 2025;38(10):100811.

Nelson HA, Condie C, Doyle K, Rudolf JW, Pearson LN. On-cell stability of digoxin, lithium, phenytoin, valproic acid, and vancomycin for therapeutic drug monitoring. J Appl Lab Med. 2025;10(5):1285-1291.

White SK, Walker BS, Potter S, Anderson D, Metcalf RA. Estimating the incidence of transfusion-associated circulatory overload using active surveillance: a systematic review and meta-analysis. Transfusion. 2025;65(6):1061-1071.

Metcalf RA, Nahirniak S, Guyatt G, Bathla A, White SK, Al-Riyami AZ, Jug RC, La Rocca U, Callum JL, Cohn CS, DeAnda A, DeSimone RA, Dubon A, Estcourt LJ, Filipescu DC, Fung MK, Goel R, Hess AS, Hume HA, Kaufman RM, Kranke P, Louw VJ, Møller MH, Murphy MF, Muszynski JA, O'Kelly CJ, Pagano MB, Patidar GK, Pavenski K, Poston JN, Saifee NH, Stolla M, Szczepiorkowski ZM, Tobian AAR, Uberoi R, Waters J, Williams B, Wood EM, Zantek ND, Zeller MP, Grossman BJ, Stanworth SJ. Platelet transfusion: 2025 AABB and ICTMG International Clinical Practice Guidelines. JAMA. 2025;334(7):606-617.

Patel K, Arvisais-Anhalt S, Bunch DR, Holmes DT, Spies NC. Robotic process automation in laboratory medicine. Clin Chem. 2025:hvaf060.

McMurray JC, Schornack BJ, Villar J, George TI, Boggs NA. Utility of tryptase genotyping in the screening, diagnosis, and management of systemic mastocytosis. Front Allergy. 2025;6:1599358.

Castells M, Akin C, Hartmann K, Broesby-Olsen S, George TI, Powell D, Bidollari I, Lin HM, Lampson B, Doyle A, Siebenhaar F, Sabato V. Continued symptom and quality of life improvement with favorable safety shown with long-term avapritinib in indolent systemic mastocytosis. J Allergy Clin Immunol Pract. 2025;13(8):2194-2196.e1.

Madigan LM, Boggs NA, Rets AV, Gru AA, Tashi T, Wada DA, Florell SR, Carter MC. Mastocytosis in the skin: approach to diagnosis, evaluation, and management in adult and pediatric patients. Am J Clin Dermatol. 2025;26(5):851.

Kurtin S, Akin C, George TI, Pearson E. Integrating a rare disease into practice: development of a toolkit for systemic mastocytosis. J Adv Pract Oncol. 2025:1-5.

Taliercio V, Zhao J, Boyden SE, Mao R, Bayrak-Toydemir P, Pflaum A, Palumbos J, Andrews A, Baldwin EE, Welt C, Fait M; Undiagnosed Diseases Network; Botto LD, Viskochil D. Worth the effort: lessons for discovery and care from an unusual case of Gorlin syndrome. Am J Med Genet A. 2025;197(9):e64108.

Peterson LK, Nandakumar V, Valentine JF, Delgado JC, Saadalla AM. The utility of the immunoglobulin A flag used in celiac disease serology testing on a particle-based multianalyte technology platform. Clin Chem. 2025;71(7):818-820.

Profaizer T, Elgort MG, Delgado JC. Development and laboratory validation of an electrochemiluminescence ELISA technique for measuring infliximab concentrations and anti-drug antibodies. J Immunol Methods. 2025;540:113865.

Greene DN, Ahmed SB, Daccarett S, Kling JM, Lorey TS, Rytz CL, Smock KJ, Winston-McPherson G. A comprehensive review of estradiol, progesterone, luteinizing hormone, and follicle-stimulating hormone in the context of laboratory medicine to support women's health. Clin Chem. 2025;71(8):842-857.

Montelongo-Jauregui D, McFarland J, Pham J, Shakir SM. The Brief Case: complexity of laboratory diagnosis of Mycobacterium genavense-a classic case of an unusual pathogen. 2025;63(4):e0146324.

Sim BZ, Mah JK, Heldman MR, Stanly KL, Hanson KE, Caliendo AM, Andes D, Ostroskly-Zeichner L, Wingard JR, Alexander BD. Plasma microbial cell-free DNA metagenomic sequencing for diagnosis of invasive fungal diseases among high risk outpatient and inpatient immunocompromised hosts. Clin Infect Dis. 2025:ciaf170.

Lalos N, Vesoulis Z, Maucione C, Spies NC. "Estimation of gestational age-specific reference intervals for coagulation assays in a neonatal intensive care unit using real-world data": reply. J Thromb Haemost. 2025;23(4):1454-1455.

Jenkins SM, Palmquist RN, Moore B, Boyden SE, Nicholas TJ, Bayrak-Toydemir P, Mao R, Farrell JAR, Holt CH, Rynearson SG, Solorzano CM, Ward A, Best DH, Al-Sweel N, Bentley DL, Brunelli L, Chow CY, Close DW, Cormier MJ, Deshotel MJ, Durtschi J, Eide EJ, Floyd L, Fredrickson EK, Fulmer ML, Hernandez EJ, Kapron AL, Karren MA, Lewis RG, Miller CE, Murtaugh LC, Nicholson KE, Noble K, O’Fallon BD, O’Shea JM, Pattison DC, Pedersen BS, Petersen BJ, Peterson BD, Pizzo L, Reynolds HM, Rindler P, Torr CB, Wen T, Yost HJ, Zhao J, Yandell M, Marth GT, Quinlan AR, Carey JC, Shayota BJ, Tristani-Firouzi M, Bonkowsky JL. The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit. NPJ Genom Med. 2025;10(1):26.

Liu BM, Yao Q, Cruz-Cosme R, Yarbrough C, Draper K, Suslovic W, Muhammad I, Contes KM, Hillyard DR, Teng S, Tang Q. Genetic conservation and diversity of SARS-CoV-2 envelope gene across variants of concern. J Med Virol. 2025;97(1):e70136.

Cheerie D, Meserve MM, Beijer D, Kaiwar C, Newton L, Taylor Tavares AL, Verran AS, Sherrill E, Leonard S, Sanders SJ, Blake E, Elkhateeb N, Gandhi A, Liang NSY, Morgan JT, Verwillow A, Verheijen J, Giles A, Williams S, Chopra M, Croft L, Dafsari HS, Davidson AE, Friedman J, Gregor A, Haque B, Lechner R, Montgomery KA, Ryten M, Schober E, Siegel G, Sullivan PJ, Whittle EF, Zardetto B, Yu TW, Synofzik M, Aartsma-Rus A, Costain G, Lauffer MC; N=1 Collaborative. Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments. Am J Hum Genet. 2025;112(5):975-983.

O'Neal N, Goold E, Zarei Haji Abadi F, Okojie J, Barrott J. Papillary tumor of the pineal region identified by DNA methylation leads to the incidental finding of germline mutation PTEN G132D associated with PTEN hamartoma tumor syndrome: a case report and systematic review. Curr Oncol. 2025;32(3):172.

Perkins G, Anderson NW, Spies NC. Retrieval-augmented generation salvages poor performance from large language models in answering microbiology-specific multiple-choice questions. J Clin Microbiol. 2025;63(3):e0162424.

Mathewson NJ, Okoye NC, Nelson HA, Pandya V, Moore C, Johnson-Davis KL. Beyond the baseline: quantification of two phosphatidylethanol homologues in whole blood by LC-MS-MS and retrospective data analysis from a national reference laboratory. J Anal Toxicol. 2025;49(3):191-200.

Balciuniene J, Yilmaz S, Chonat S, Grace RF, Soff GA, Ravindranath Y, Glader B, Bianchi P, McGee B, Agarwal AM, Puthenveetil G. Real-world insights from a cohort of approximately 2000 individuals who were analysed using a freely available next-generation sequencing anaemia screening programme. Br J Haematol. 2025;206(6):1853-1856.

Haas AL, Ma A, Pham J, Verma P, Malhotra U, Church EC, Narita M, Escuyer V, Shakir SM. Limitations of the MTB/RIF assay: an Xpert review of 4 clinical cases. Open Forum Infect Dis. 2025;12(4):ofaf132.

Wen T, Boyden SE, Hocutt CM, Lewis RG, Baldwin EE, Vagher J, Andrews A, Nicholas TJ, Chapin A, Fan EM, Botto LD, Bayrak-Toydemir P, Mao R, Meznarich JA. Identification of 2 novel noncoding variants in Diamond-Blackfan anemia syndrome by whole genome sequencing. Blood Adv. 2025;9(10):2443-2452.

Greenwall B, Reeder K, Anani W. Elevated plasma testosterone concentrations from males on testosterone replacement therapy are mitigated with pathogen reduction technology. Transfusion. 2025;65(3):524-530.

Zuromski LM, Durtschi J, Aziz A, Chumley J, Dewey M, English P, Morrison M, Simmon K, Whipple B, O'Fallon B, Ng DP. Clinical validation of a real-time machine learning-based system for the detection of acute myeloid leukemia by flow cytometry. Cytometry B Clin Cytom. 2025;108(5):392-403.

Bahr TM, Doyle K, Ohls RK, Christensen RD. Using the refineR algorithm to generate indirect reference intervals for newborn infants for the parameters "Micro-R" and "HYPO-He". J Perinatol. Published online Feb 2025.

Shean RC, Hellwig S, Saadalla A, George TI, Rets AV. High-sensitivity KIT D816V variation analysis by droplet digital polymerase chain reaction: the reference laboratory perspective. Am J Clin Pathol. 2025;164(2):145-149.

Frater JL, George TI. An update on the activities of the International Society for Laboratory Hematology, 2025. Int J Lab Hematol. Pubished online Feb 2025.

Tshering KC, DiStefano MT, Oza AM, Ajuyah P, Webb R, Edoh E, Broeren E, Ratliff J, Gitau V, Paris K, Aburyyan A, Alexander J, Albano V, Bai D, Booth KTA, Buonfiglio PI, Charfeddine C, Dalamón V, Castillo ID, Moreno-Pelayo MA, Duzkale H, Dorshorst B, Faridi R, Kenna M, Lewis MA, Luo M, Lu Y, Mkaouar R, Matsunaga T, Nara K, Pandya A, Redfield S, Roux I, Schimmenti LA, Schrauwen I, Shaaban S, Shen J, Vona B, Smith RJ, Rehm HL, Azaiez H, Abou Tayoun AN, Amr SS; ClinGen Hearing Loss Clinical Domain Working Group. ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time. Genet Med. 2025;27(10):101500.

Shestakova A, Haghighi N, Zhang Y, Tarabay J, Evans MG, Burtsev A, Chan JY, Gamayo A, Zhao X, O'Brien S, Quintero-Rivera F, Rezk SA. Mutational landscape of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) involving the central nervous system. Leuk Lymphoma. 2025;66(6):1132-1137.

Wilcock D, Sirohi D, Coleman JF, Adelhardt P, Kim JT, Albertson D, Affolter K, Beech C, Jedrzkiewicz J, Ruano AL, Cleary AS, Mahlow J, Balatico M, Gulbahce HE. HER2 fluorescence in situ hybridization groups 2-4 breast cancers classified as positive after targeted recounts following equivocal (2+) immunohistochemistry. Am J Clin Pathol. 2025;163(6):837-846.

Jones A, Couturier MR, Pavia AT, Leung DT. Dientamoeba fragilis cases identified by molecular detection, Utah, United States, 2014-2024. Epidemiol Infect. 2025;153:e36.

Genzen JR, Miller LJ, Rets AV, Affolter KE. Laboratory-developed tests and in vitro diagnostics: a regulatory overview for anatomic pathology. Am J Clin Pathol. 2025;163(5):730-743.

Agarwal AM, Rets A, Mani C. Novel mutations in SUPT5H gene associated with beta-thalassemia phenotype. Int J Lab Hematol. 2025;47(3):552-554.

Hinz F, Friedel D, Korshunov A, Ippen FM, Bogumil H, Banan R, Brandner S, Hasselblatt M, Boldt HB, Dirse V, Dohmen H, Aronica E, Brodhun M, Broekman MLD, Capper D, Cherkezov A, Deng MY, van Dis V, Felsberg J, Frank S, French PJ, Gerlach R, Göbel K, Goold E, Hench J, Kantelhardt S, Kohlhof-Meinecke P, Krieg S, Mawrin C, Morrison G, Mühlebner A, Ozduman K, Pfister SM, Poliani PL, Prinz M, Reifenberger G, Riemenschneider MJ, Sankowski R, Schrimpf D, Sill M, Snuderl M, Verdijk RM, Voisin MR, Wesseling P, Wick W, Reuss DE, von Deimling A, Sahm F, Maas SLN, Suwala AK. IDH-mutant astrocytomas with primitive neuronal component have a distinct methylation profile and a higher risk of leptomeningeal spread. Acta Neuropathol. 2025;149(1):12.

Pandya V, Delgado JC. Hiding in plain sight: protein electrophoresis profile inconsistent with patient's diagnosis. Clin Chem. 2025;71(2):248-252.

Lázár-Molnár E, Peterson LK. Clinical utility of the lymphocyte proliferation assay, an in vitro functional readout of the adaptive immune response. J Immunol Methods. 2025;537:113819. 

Spies NC, Rangel A, English P, Morrison M, O'Fallon B, Ng DP. Machine learning methods in clinical flow cytometry. Cancers (Basel). 2025;17(3):483.

Koh MCY, Sim KMS, Mathison BA, Bradbury RS, Ngiam JN, Chan NJH, Oon JEL, Wee A, Yan GZ. The Brief Case: incidental finding of a liver fluke following resection of hepatocellular carcinoma. J Clin Microbiol. 2025;63(1):e0130224.

Beech C, Wilcock DM, Moore KH, Rowe L, Mahlow J, Jedrzkiewicz J, Cleary AS, Lomo L, Ruano AL, Gering M, Bradshaw D, Maughan M, Tran P, Davis R, Affolter K, Albertson DJ, Adelhardt P, Kim J, Coleman JF, Deftereos G, Gulbahce EH, Sirohi D. Changes in HER2 amplification status for breast cancer patients after immunohistochemistry directed in situ hybridization. Appl Immunohistochem Mol Morphol. 2025;33(2):91-102.

Sahasrabuddhe AA, Chen X, Ma K, Wu R, Liang HC, Kapoor R, Chhipa RR, Onder O, McFetridge C, Van Arnam JS, Zhang X, Morrissette JJD, Pillai V, Li MM, Szankasi P, Basrur V, Conlon KP, Raabe TD, Bailey NG, Hogaboam CM, Rottapel R, Kim J, López C, Schlesner M, Siebert R, Dreval K, Morin RD, Moro L, Pagano M, Staudt LM, Lim MS, Elenitoba-Johnson KSJ. The FBXO45-GEF-H1 axis controls germinal center formation and B-cell lymphomagenesis. Cancer Discov. 2025;15(4):838-861.

Thaitumu MN, Frank EL. Analysis of urinary metanephrines using liquid chromatography tandem mass spectrometry. Methods Mol Biol. 2025;2891:257-268.

Obiorah I, McCall CM, Balmaceda A, Salansky S, Agarwal A, Pozdnyakova O. An 18-year review of hemoglobinopathy proficiency testing: recommendations from the College of American Pathologists Hematology and Clinical Microscopy Committee. Arch Pathol Lab Med. 2025;149(9):805-811.

Lozier B, Martins T, Slev P, Saadalla A. Determination of positivity cutoff for an automated Aspergillus fumigatus-specific immunoglobulin-G assay in a national reference laboratory. J Appl Lab Med. 2025;10(3):619-628.

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Attaway C, Mathison BA, Misra A. No longer stuck in the past: new advances in artificial intelligence and molecular assays for parasitology screening and diagnosis. Curr Opin Infect Dis. 2024;37(5):357-366.s